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Hereditary neuropathy with liability to pressure palsies

Report of two families and review of the literature

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Summary

Clinical, neurophysiological and pathological investigations were carried out in 11 affected members of 2 families with hereditary neuropathy with liability to pressure palsies (HNPP). The observations were related to findings in 261 cases of 47 families published in the literature. It was concluded that HNPP is a nosological entity characterized by the following diagnostic criteria: (1) an autosomal dominant inheritance; (2) the clinical presentation of a recurrent mononeuropathy simplex or multiplex, frequently related to an inadequate trauma to peripheral nerves; (3) a significant slowing of motor and sensory conduction velocity in clinically affected, but also in clinically unaffected nerves; (4) characteristic morphological findings in sural nerve biopsy featuring “tomaculous” swellings of myelin sheaths, transnodal myelination and segmental demyelination. The pathogenesis of HNPP is not clear. Hypothetical explanations of the pathogenesis of HNPP are discussed.

Zusammenfassung

Elf betroffene Mitglieder von zwei Familien mit hereditärer Neuropathie mit Neigung zu Druckläsionen (Hereditary neuropathy with liability to pressure palsies, HNPP) wurden klinisch, elektrophysiologisch und nervenbioptisch untersucht. Die eigenen Beobachtungen wurden mit den Befunden bei 261 Fällen von 47 Familien aus der Literatur verglichen. Basierend auf den eigenen Befunden und den Ergebnissen der Literaturübersicht ist die hereditäre Neuropathie mit Neigung zu Druckläsionen durch folgende diagnostische Merkmale eindeutig als nosologische Entität charakterisiert: 1. einen autosomal dominanten Erbgang, 2. die klinische Präsentation als rekurrierende Mononeuropathia simplex oder multiplex, häufig als Folge eines inadäquaten mechanischen Traumas, 3. eine eindeutige Verlangsamung der motorischen und sensiblen Nervenleitgeschwindigkeit bei klinisch betroffenen, aber auch bei klinisch nicht betroffenen Nerven, 4. durch typische morphologische Befunde in der Suralisbiopsie, welche tomakulöse (wurstförmige) Anschwellungen der Markscheiden, transnodale Myelinisierung und segmentale Demyelinisierung zeigen. Die Pathogenese dieser Neuropathie ist nicht geklärt. Hypothetische Deutungen der formalen und kausalen Genese der pathologischen Veränderungen werden diskutiert.

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References

  1. Aguayo AJ, Kasarjian J, Skamene E, Kongsharn P, Bray GM (1977) Myelination of mouse axons by Schwann cells transplanted from normal and abnormal human nerves. Nature 268:753–755

    Article  CAS  PubMed  Google Scholar 

  2. Behse F, Buchthal F, Carlsen F, Knappeis GG (1972) Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects. Brain 95:777–794

    Article  CAS  PubMed  Google Scholar 

  3. Bischoff A (1977) Die diabetische Neuropathie. In: Oberdisse K (Hrsg) Handbuch der Inneren Medizin, Vol 7/28. Springer, Berlin Heidelberg New York, S 415–464

    Google Scholar 

  4. Bosch EP, Chui HC, Martin MA, Cancilla PA (1980) Brachial plexus involvement in familial pressure-sensitive neuropathy: electrophysiological and morphological findings. Ann Neurol 8:620–624

    Article  CAS  PubMed  Google Scholar 

  5. Bradley WG, Madrid R, Thrush DC, Campbell MJ (1975) Recurrent brachial plexus neuropathy. Brain 98:381–398

    Article  CAS  PubMed  Google Scholar 

  6. Castaigne P, Cathala HP, Brunet P, Hauw JJ, Sicard JP (1976) Paralysies tronculaires recidivantes et neuropathie chronique concomitante. J Neurol Sci 30:65–82

    Article  CAS  PubMed  Google Scholar 

  7. Conn DL, Dyck PJ (1975) Angiopathic neuropathy in connective tissue disease. In: Dyck JP, Thomas PK, Lambert EH (eds) Peripheral neuropathy. WB Saunders, Philadelphia, pp 1149–1165

    Google Scholar 

  8. Cruz Martinez A, Perez Conde C, Ramon Y, Cajal S, Martinez A (1977) Recurrent familial polyneuropathy with liability to pressure palsies. Special regard to electrophysiological aspects of 25 members from 7 families. Electromyogr Clin Neurophysiol 17:101–124

    Google Scholar 

  9. Davies DM (1954) Recurrent peripheral nerve palsies in a family. Lancet II:266–268

    Article  Google Scholar 

  10. Dayan AD, Graveson GS, Robinson PK, Woodhouse MA (1968) Globular neuropathy. A disorder of axons and Schwann cells. J Neurol Neurosurg Psychiatry 31:552–560

    Article  CAS  PubMed  Google Scholar 

  11. Debruyne J, Dehaene I, Martin JJ (1980) Hereditary pressure-sensitive neuropathy. J Neurol Sci 47:385–394

    Article  CAS  PubMed  Google Scholar 

  12. DeJong JGY (1947) Over families met hereditaire disposite tot het optreten van neuritiden, gecorreleard met migraine. Psychiatr Neurol Bl (Amsterdam) 50:60–76

    CAS  Google Scholar 

  13. Dietz V, Schenk E (1975) Familiäre Polyneuropathie mit Neigung zu Druckparesen. Arch Psychiatr Nervenkr 222:67–78

    Google Scholar 

  14. Dubi J, Regli F, Bischoff A, de Crousaz G (1979) Recurrent familial neuropathy with liability to pressure palsies. J Neurol 220:43–55

    Article  CAS  PubMed  Google Scholar 

  15. Ebner A, Dengler R, Meier C (1981) Peripheral and central conduction times in hereditary pressure-sensitive neuropathy. J Neurol 226:85–99

    Article  CAS  PubMed  Google Scholar 

  16. Earl CJ, Fullerton PM, Wakefield GS, Schutta HS (1964) Hereditary neuropathy with liability to pressure palsies. A clinical and electrophysiological study of 4 families. Q J Med 33:481–498

    CAS  PubMed  Google Scholar 

  17. Geiger LR, Mancall EL, Penn AS, Tucker SH (1974) Familial neuralgic amyotrophy. Brain 97:87–102

    Article  CAS  PubMed  Google Scholar 

  18. Görke W (1974) Clinical and electroneuromyographical findings in hereditary neuropathy with liability to pressure palsies. Neuropediatrics 5:358–368

    Article  Google Scholar 

  19. Haferkamp G, Regli F (1976) Hypertrophische Neuropathie. Die sporadische rezidivierende hypertrophische Neuropathie. Klinisch histologischer Beitrag zur Differentialdiagnose. Schweiz Arch Neurol Neurochir Psychiatr 118:7–22

    CAS  PubMed  Google Scholar 

  20. Herlicoviez D, Lechevalier B, L'Hirondel J, Coquerel G, Lucas P (1979) Neuropathie récurente par compression. Etude d'une famille de 13 membres. Rev Neurol (Paris) 135:541–556

    CAS  PubMed  Google Scholar 

  21. Jedrozjowska H, Hausmanova I (1981) Familial neuropathy with liability to pressure palsies. Ital J Neurol Sci 3:229–236

    Google Scholar 

  22. Korwin-Piotrowska T, Stankiewicz J (1979) Dwa przypadki dziedzicznej nawracajacejneuropatii wyzwalanej uciskiem nerwow obwodowych. (Two cases of hereditary recurrent neuropathy released by compression of peripheral nerves.) Neurol Neurochir Pol 13:331–333

    CAS  PubMed  Google Scholar 

  23. Lhermitte F, Gautier JC, Rosa A (1973) Neuropathie récurente familiale. Rev Neurol (Paris) 128:419–424

    CAS  PubMed  Google Scholar 

  24. Ludin HP (1980) Electromyography in practice. Thieme, Stuttgart

    Google Scholar 

  25. Ludin HP, Tackmann W (1981) Sensory neurography. Thieme, Stuttgart

    Google Scholar 

  26. Madrid R, Bradley WG (1975) The pathology of neuropathies with focal thickening of the myelin sheath (tomaculous neuropathy). Studies on the formation of the abnormal myelin sheat. J Neurol Sci 25:415–488

    Article  Google Scholar 

  27. Matiar-Vahar H, Rohrer H (1970) Die familiäre rezidivierende polytope Neuropathie. Fortschr Neurol Psychiatr 38:493–523

    CAS  Google Scholar 

  28. Mayer FR, Garcia-Mullin F (1968) Hereditary neuropathy manifested by pressure palsies—a Schwann cell disorder? Trans Am Neurol Assoc 93:238–240

    CAS  PubMed  Google Scholar 

  29. Meier C, Bischoff A (1975) Oligodendroglial cell development in jimpy mice and controls. J Neurol Sci 26:517–528

    Article  CAS  PubMed  Google Scholar 

  30. Mumenthaler M, Schliack H (1982) Läsionen peripherer Nerven, 4. Auflage. Thieme, Stuttgart

    Google Scholar 

  31. Roos D, Thysgen P (1972) Familial recurrent polyneuropathy. A family and a survey. Brain 95:235–248

    Article  CAS  PubMed  Google Scholar 

  32. Staal A, de Weerdt CJ, Went LN (1965) Hereditary compression syndrome of peripheral nerves. Neurology (Minneap) 15:1008–1017

    CAS  PubMed  Google Scholar 

  33. Strenge H, Soyka D, Tackmann W (1982) Visual and somatosensory evoked potentials and F-wave latency measurements in hereditary neuropathy with liability to pressure palsies. J Neurol 226:269–273

    Article  CAS  PubMed  Google Scholar 

  34. Thomas PK, Lascelles RG, Hallpike JF, Hewer RL (1969) Recurrent and chronic relapsing Guillain-Barré polyneuritis. Brain 92:589–606

    Article  CAS  PubMed  Google Scholar 

  35. Ungley CC (1933) Recurrent polyneuritis in pregnancy and the puerperium affecting three members of a family. J Neurol Psychopathol 14:15–26

    Article  Google Scholar 

  36. Van Wensen PJM (1980) Erfelijke Drukneuropathien. Dissertation, Nijmegen

    Google Scholar 

  37. Wahle H, Tönnis D (1958) Familiäre Anfälligkeit gegenüber Druckläsionen peripherer Nerven. Fortschr Neurol Psychiatr 25:371–376

    Google Scholar 

  38. Webster HF de (1975) Development of peripheral myelinated and unmyelinated nerve fibres. In: Dyck PJ, Thomas PK, Lambert EH (eds) Peripheral neuropathy. WB Saunders, Philadelphia, pp 37–61

    Google Scholar 

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Authors and Affiliations

  1. Department of Neurology, University of Berne, Inselspital, CH-3010, Berne, Switzerland

    Claus Meier & Carl Moll

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  1. Claus Meier
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  2. Carl Moll
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In memory of Albert Bischoff (1921–1981), Professor of Neurology, University of Berne

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Meier, C., Moll, C. Hereditary neuropathy with liability to pressure palsies. J Neurol 228, 73–95 (1982). https://doi.org/10.1007/BF00313754

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  • DOI: https://doi.org/10.1007/BF00313754

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